EBK GENETICS: FROM GENES TO GENOMES
6th Edition
ISBN: 9781260041255
Author: HARTWELL
Publisher: MCGRAW HILL BOOK COMPANY
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Chapter 11, Problem 37P
A researcher sequences the whole exome of a patient suffering from Usher syndrome, a rare autosomal recessive condition that is nonetheless the leading cause for simultaneous deafness and blindness. The exome sequence does not show homozygosity for any polymorphisms different from the human RefSeq.
| a. How could the researcher examine the data already gathered to try to find the disease gene, assuming the sequence is accurate? |
| b. If the attempt described in part (a) was unsuccessful, the researcher might contemplate sequencing the patient’s whole genome. What are the potential pitfalls of this strategy? |
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Imagine that you are a clinical geneticist. Your colleague is an oncologist who wants your help explaining the basics of genetics to their patient, who will be undergoing genetic testing in the coming weeks for possible acute myeloid leukemia (AML) induced by the radiation she had several years ago for breast cancer.
Write a 1,050- to 1,225-word memo to your colleague.
Include the following in your memo:
An explanation of the molecular structure of DNA and RNA, highlighting both similarities and differences
A description of the processes of transcription and translation
An explanation of the differences between leading and lagging strands and how the DNA is replicated in each strand
Reponses to the following common questions patients might ask about this type of genetic testing and genetic disorder:
Does AML run in families?
What genes are tested for?
Respond to the following in a minimum of 175 words:
What are some potential consequences that could result if the processes of replication, transcription, and translation don’t function correctly?
Provide an example of how you might explain these consequences in terms that patients might understand.
Chapter 11 Solutions
EBK GENETICS: FROM GENES TO GENOMES
Ch. 11 - Choose the phrase from the right column that best...Ch. 11 - Would you characterize the pattern of inheritance...Ch. 11 - Would you be more likely to find single nucleotide...Ch. 11 - A recent estimate of the rate of base...Ch. 11 - If you examine Fig. 11.5 closely, you will note...Ch. 11 - Approximately 50 million SNPs have thus far been...Ch. 11 - Mutations at simple sequence repeat SSR loci occur...Ch. 11 - Humans and gorillas last shared a common ancestor...Ch. 11 - In 2015, an international team of scientists...Ch. 11 - Using PCR, you want to amplify an approximately 1...
Ch. 11 - Prob. 11PCh. 11 - The previous problem raises several interesting...Ch. 11 - You want to make a recombinant DNA in which a PCR...Ch. 11 - You sequence a PCR product amplified from a...Ch. 11 - Prob. 15PCh. 11 - The trinucleotide repeat region of the Huntington...Ch. 11 - Sperm samples were taken from two men just...Ch. 11 - Prob. 18PCh. 11 - a. It is possible to perform DNA fingerprinting...Ch. 11 - On July 17, 1918, Tsar Nicholas II; his wife the...Ch. 11 - The figure that follows shows DNA fingerprint...Ch. 11 - Microarrays were used to determine the genotypes...Ch. 11 - A partial sequence of the wild-type HbA allele is...Ch. 11 - a. In Fig. 11.17b, PCR is performed to amplify...Ch. 11 - The following figure shows a partial microarray...Ch. 11 - Scientists were surprised to discover recently...Ch. 11 - The microarray shown in Problem 25 analyzes...Ch. 11 - The figure that follows shows the pedigree of a...Ch. 11 - One of the difficulties faced by human geneticists...Ch. 11 - Now consider a mating between consanguineous...Ch. 11 - The pedigree shown in Fig. 11.22 was crucial to...Ch. 11 - You have identified a SNP marker that in one large...Ch. 11 - The pedigrees indicated here were obtained with...Ch. 11 - Approximately 3 of the population carries a mutant...Ch. 11 - The drug ivacaftor has recently been developed to...Ch. 11 - In the high-throughput DNA sequencing protocol...Ch. 11 - A researcher sequences the whole exome of a...Ch. 11 - As explained in the text, the cause of many...Ch. 11 - Figure 11.26 portrayed the analysis of Miller...Ch. 11 - A research paper published in the summer of 2012...Ch. 11 - Table 11.2 and Fig. 11.27 together portray the...Ch. 11 - The human RefSeq of the entire first exon of a...Ch. 11 - Mutations in the HPRT1 gene in humans result in at...Ch. 11 - Prob. 44P
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